Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs738791 0.851 0.120 22 23775338 intron variant C/T snv 0.37 6
rs371769427 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 17
rs1046282 0.776 0.160 19 45407414 3 prime UTR variant A/G snv 0.30 10
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1800470 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 106
rs1982073 0.649 0.640 19 41353016 missense variant G/A;C snv 32
rs3212948 0.776 0.160 19 45421104 intron variant G/C snv 0.53 10
rs735482 0.742 0.160 19 45408744 missense variant A/C snv 0.21 0.20 16
rs895819 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 46
rs1058808 0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 27
rs11540652 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 20
rs121917887 0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05 10
rs28934576 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 47
rs28934578 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 36
rs762846821 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 56
rs12918952 0.851 0.120 16 78386878 missense variant G/A;C;T snv 7
rs4769793 0.807 0.120 13 29985289 intergenic variant G/C snv 8
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 135
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 47
rs78768932
PXN
0.882 0.080 12 120222977 missense variant C/G;T snv 5.4E-03 5.4E-03 6
rs937283 0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37 19
rs1057519847 0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848 0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 484
rs121434568 0.568 0.560 7 55191822 missense variant T/A;G snv 73